Treatment with Brineura (cerliponase alfa) reduces decline in motor and language function in children with ceroid lipofuscinosis type 2 (CLN2), a subtype of Batten disease, new results from an extension Phase 1/2 trial show. The findings are in, “Study of Intraventricular Cerliponase Alfa for CLN2 Disease,” published…
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At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…
ABO-202, Abeona Therapeutics‘ investigational candidate for the treatment of infantile Batten disease has received orphan drug status by the European Medicines Agency. This new status adds to the previously granted orphan drug and rare pediatric disease designation by the U.S. Food and Drug Administration. These designations are…
Several compounds were able to correct defects in the brain caused by juvenile neuronal ceroid lipofuscinosis (CLN3) in both cellular and mouse models, uncovering potential therapeutic candidates for treating the disease. Because some of these compounds are already approved…
Disruption of cilia, hair-like structures extending from the surface of cells, may play a role in Batten disease pathology, a mouse study suggests. The study, “Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease,” was published in the…
Neural stem cells derived from people with Batten disease can be used as a “disease model” to evaluate new treatment options for patients, according to researchers. Infantile neuronal ceroid lipofucinosis (INCL or CLN1) and late infantile NCL (LINCL or CLN2), all types of neuronal ceroid lipofuscinoses (NCLs, or Batten…
Chinese researchers used an advanced genetic sequencing technique to identify two new pathogenic variants of the CLN8 gene in a boy with suspected neuronal ceroid lipofuscinosis (NCL), or Batten disease. Molecular diagnosis was delivered within three weeks, demonstrating the advantages of using genome sequencing for providing fast and…
A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…
Gene therapy directly targeting a specific type of neuron in the retina of the eye was able to prevent vision loss in late infantile Batten disease caused by rare CLN6 genetic mutations in mouse models of the disease. The study, “…
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Loss of CLN7 Protein Contributes to Development, Progression of Batten Disease, Mouse Study Finds
Loss of a protein called CLN7 causes levels of multiple soluble lysosomal proteins to drop, contributing to the development and progression of Batten disease, a mouse model shows. The study, “Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation,” was published in the journal…
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